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1
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc
Publicado no Ann Transl Med (2015)
“...BACKGROUND AND OBJECTIVE: Osteogenesis imperfecta (OI) comprises a group of disorders principally...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
2
Por Dung, Vu Chi, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Fukami, Maki
Publicado no Ann Transl Med (2015)
“... and testosterone level was 0.4 nmol/L at 8 years of age. A homozygous missense mutation (p.R237G) was identified...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
3
Por Dung, Vu Chi, Thao, Bui Phuong, Ngoc, Can Thi Bich, Khanh, Nguyen Ngoc, Ellard, Sian
Publicado no Ann Transl Med (2015)
“... years of age—diagnosed diabetes showed: plasma urea 10.1 mmol/L; creatinine 250 micrommol/L; HbA1C 13.6...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
4
Por Dung, Vu Chi, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Morel, Yves
Publicado no Ann Transl Med (2015)
“...) deficiency is a rare cause of CAH caused by inactivating mutations in the HSD3B2 gene. Most mutations...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
5
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Flanagan, Sarah, Ellard, Sian
Publicado no Ann Transl Med (2015)
“... with the features of convulsion, anemia, jaundice, diabetic ketoacidosis with pH of 7.27, HCO(3)(−) of 17.8 mmoL/L...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
6
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Hwu, Wuh-Liang
Publicado no Ann Transl Med (2015)
“... to the lysosomes I. As a consequence the enzymes are secreted into the extracellular space, and high activities can...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
7
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Le, Hang Thi Thuy, Nguyen, Khanh Ngoc, Bui, Huong Thi
Publicado no Ann Transl Med (2015)
“.... Based on analysis of a patient’s clinical symptoms associated with enzyme α-L-iduronidase activity...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
8
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Le, Hang Thi Thuy, Nguyen, Khanh Ngoc, Bui, Huong Thi
Publicado no Ann Transl Med (2015)
“..., a 6-minute walk test distance of 240 m, DQ 55%, α iduronate sulphate: 0 nmoL/4 h/mL plasma (normal...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
9
Por Nguyen, Khanh Ngoc, Vu, Dung Chi, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nguyen, Mai Chi, Yamaguchi, Seiji
Publicado no Ann Transl Med (2015)
“... symptoms at 1 and 1.5 months of age, respectively. Three days before admission, she presented with poor...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
10
Por Nguyen, Khanh Ngoc, Vu, Dung Chi, Can, Ngoc Thi Bich, Bui, Thao Phuong, Nguyen, Mai Chi, Yamaguchi, Seiji
Publicado no Ann Transl Med (2015)
“... of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
11
Por Thao, Bui Phuong, Dung, Vu Chi, Khanh, Nguyen Ngoc, Ngoc, Can Thi Bich, Hoan, Nguyen Thi, Phuong, Nguyen Thi
Publicado no Ann Transl Med (2015)
“... line (51.3%), excessive skin in the back of the neck/webbed neck (42.5%). In a group aged <1 year...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
12
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Zennaro, Maria-Christina, Wudy, Stefan A.
Publicado no Ann Transl Med (2015)
“.../L. Investigation show pH 7.26, PCO(2) 34 mmHg, PO(2) 110 mmHg, HCO(3)(-) 18 mmoL/L, BE -10, plasma...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
13
Por Nguyen, Khanh Ngoc, Vu, Dung Chi, Bui, Thao Phuong, Can, Ngoc Thi Bich, Nguyen, Hoan Thi, Nguyen, Dat Phu
Publicado no Ann Transl Med (2015)
“... management of pediatric hyperlipidemia can have a significant impact upon the disease course and can prevent...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
14
Por Nguyen, Khanh Ngoc, Vu, Dung Chi, Fukao, Toshiyuki, Bui, Thao Phuong, Can, Ngoc Thi Bich, Nguyen, Hoan Thi, Yamaguchi, Seiji
Publicado no Ann Transl Med (2015)
“... at 3 days of age but developed the crisis at 6 months of age. One case was asymptomatic until now (5...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
15
Por Duong, Dang Anh, Dung, Vu Chi, Dat, Nguyen Phu, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Dien, Tran Minh
Publicado no Ann Transl Med (2015)
“... 3730 capillary sequencer & were compared to published sequences using Mutation Surveyor version 3...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
16
Por Duong, Dang Anh, Dung, Vu Chi, Dat, Nguyen Phu, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Dien, Tran Minh
Publicado no Ann Transl Med (2015)
“... and KCNJ11, HNF4A and GLUD genes, genotype and phenotype correlations of children with HI. METHODS: A...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
17
Por Duong, Dang Anh, Dung, Vu Chi, Dat, Nguyen Phu, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Dien, Tran Minh
Publicado no Ann Transl Med (2015)
“... later in life can present in early infancy with hyperinsulinism. The study was to describe a child...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
18
Por Dung, Vu Chi, Fukami, Maki, Ngoc, Can Thi Bich, Thao, Bui Phuong, Khanh, Nguyen Ngoc, Nga, Pham Thu, Dat, Nguyen Phu, Ogata, Tsutomu
Publicado no Ann Transl Med (2015)
“... unrelated families including three novel ones. The novel missense mutation p.L701F (c.2103G...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
19
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Nguyen, Dat Phu, Craig, Maria, Hattersley, Andrew, Nguyễn, Hoan Thi
Publicado no Ann Transl Med (2015)
“...±10.9 mmoL/L, HbA1C of 7.02%±0.96%. Methylation—specific PCR of two patients showed heterozygous...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo
20
Por Can, Ngoc Thi Bich, Vu, Dung Chi, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Nguyen, Dat Phu, Craig, Maria, Ellard, Sian, Nguyen, Hoan Thi
Publicado no Ann Transl Med (2015)
“... with the feature of diabetic ketoacidosis with pH of 7.04±0.22; plasma glucose levels were 34.3±12.7 mmoL/L, HbA1C...”Publicado no Ann Transl Med (2015)
Obter o texto integral
Obter o texto integral
Artigo